{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T04:06:13Z","timestamp":1777521973767,"version":"3.51.4"},"reference-count":23,"publisher":"SAGE Publications","issue":"5","license":[{"start":{"date-parts":[[2009,9,1]],"date-time":"2009-09-01T00:00:00Z","timestamp":1251763200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["The Cleft Palate Craniofacial Journal"],"published-print":{"date-parts":[[2009,9]]},"abstract":"<jats:p>Variant Klinefelter syndrome with 48,XXXY\/46,XY mosaicism has been rarely reported, and its phenotypic features, compared with those of the classic type, have not been well delineated. We describe a newborn baby with phenotypic abnormalities, including cleft palate and low-set ears. The cytogenetic analysis of peripheral blood lymphocytes showed a karyotype of 48,XXXY[36]\/46,XY[4]. To the best of our knowledge, this is the first case in which 48,XXXY\/46,XY mosaicism was related to the congenital anomaly of cleft palate. This case underscores that cytogenetic analysis should be a mandatory workup for the patient with cleft palate and that cleft palate may be a rare clinical presentation of the variant Klinefelter syndrome.<\/jats:p>","DOI":"10.1597\/07-149.1","type":"journal-article","created":{"date-parts":[[2009,9,2]],"date-time":"2009-09-02T14:33:25Z","timestamp":1251902005000},"page":"555-557","source":"Crossref","is-referenced-by-count":2,"title":["Cleft Palate in a Rare Case of Variant Klinefelter Syndrome with 48,XXXY\/46,XY Mosaicism"],"prefix":"10.1177","volume":"46","author":[{"given":"Mina","family":"Hur","sequence":"first","affiliation":[{"name":"Department of Laboratory Medicine, Konkuk University School of Medicine, Seoul, Korea."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hyoun Chan","family":"Cho","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine, Hallym University College of Medicine, Seoul, Korea."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kyu Man","family":"Lee","sequence":"additional","affiliation":[{"name":"Departments of Laboratory Medicine and Pediatrics, Hallym University College of Medicine, Seoul, Korea."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hyokhan","family":"Park","sequence":"additional","affiliation":[{"name":"Departments of Laboratory Medicine and Pediatrics, Hallym University College of Medicine, Seoul, Korea."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"So Yeon","family":"Lee","sequence":"additional","affiliation":[{"name":"Departments of Laboratory Medicine and Pediatrics, Hallym University College of Medicine, Seoul, Korea."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kwang Nam","family":"Kim","sequence":"additional","affiliation":[{"name":"Departments of Laboratory Medicine and Pediatrics, Hallym University College of Medicine, Seoul, 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